Edwards Down syndrome

Defintions:
Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by
the presence of all, or part of a third copy of chromosome 18. Many parts of the body
are affected. Babies are often born small and have heart defects. Other features
include a small head, small jaw, clenched fists with overlapping fingers, and severe
intellectual disability. Most cases of Edwards syndrome occur due to problems during
the formation of the reproductive cells or during early development. The rate of
disease increases with the mother's age. Rarely cases may be inherited from a
person's parents. Occasionally not all cells have the extra chromosome, known as
mosaic trisomy, and symptoms in these cases may be less severe. Ultrasound can
increase suspicion for the condition, which can be confirmed by amniocentesis.

https://en.wikipedia.org/wiki/Edwards_syndrome

Illustration:
Frequency:
Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common in
pregnancy, but many affected fetuses do not survive to term. Although women of all
ages can have a child with trisomy 18, the chance of having a child with this condition
increases as a woman gets older. Occurs approximately once per 6000 live births and
is second in frequency only to Trisomy 21, or Downs Syndrome, as an autosomal
trisomy. Trisomy 18 causes substantial developmental problems in utero. Most
instances of Trisomy 18 are full trisomies, meaning that every cell in the childs body
has the extra chromosome 18. As a result, significant genetic defects, such as
extremely small body size and severe physical deformities, usually result in the death
of the embryo or fetus, 95 percent of developing embryos and fetuses die before
birth. Infants who are born with Trisomy 18 survive to an average age of 14.5 days,
and 8.4 percent live longer than a year. The oldest recorded life span of a person with
Trisomy 18 is twenty-seven years. Although Trisomy 18 does not affect individuals
based on his or her race, 80 percent of cases occur in females.

https://embryo.asu.edu/pages/trisomy-18-edwards-syndrome

https://embryo.asu.edu/pages/trisomy-18-edwards-syndrome

Inheritance Pattern:
Most cases of trisomy 18 are not inherited, but occur as random events
during the formation of eggs and sperm. An error in cell division called nondisjunction
results in a reproductive cell with an abnormal number of chromosomes. For example,
an egg or sperm cell may gain an extra copy of chromosome 18. If one of these
atypical reproductive cells contributes to the genetic makeup of a child, the child will
have an extra chromosome 18 in each of the body's cells.

Mosaic trisomy 18 is also not inherited. It occurs as a random event during cell
division early in embryonic development. As a result, some of the body's cells have the
usual two copies of chromosome 18, and other cells have three copies of this
chromosome.
Partial trisomy 18 can be inherited. An unaffected person can carry a rearrangement
of genetic material between chromosome 18 and another chromosome. This
rearrangement is called a balanced translocation because there is no extra material
from chromosome 18. Although they do not have signs of trisomy 18, people who carry
this type of balanced translocation are at an increased risk of having children with
the condition.

https://ghr.nlm.nih.gov/condition/trisomy-18#inheritance

Diagnosis and management:

Diagnosing Edward's Syndrome

A diagnosis of Edward's syndrome may be reached by the physical

abnormalities that are characteristic to the syndrome. A physical examination of the
infant can show arched-type finger print patterns, for example, while X-rays can
show a shortened breast bone. A more definitive diagnosis can be reached through,
'karyotyping,' which involves taking a sample of the infant's blood for examination of
their chromosomes. Through use of specific stains and microscopy, identification of
specific chromosomes is possible and the presences of an additional chromosome
eighteen is shown.

Edward's syndrome is something that may be detected prior to the birth of the child.
Potential testing includes maternal serum alpha-fetal protein analysis or screening,
amniocentesis, ultrasonography, and chorionic villus sampling. A woman who is pregnant
with a child who has Edward's syndrome might have an uncommonly large uterus
during the pregnancy because of the presence of extra amniotic fluid. An unusually
small placenta might be noted during the birth of the child.

Treatment of Edward's Syndrome

Medical science has not found a cure for Edward's syndrome at this time.
Babies with the syndrome commonly present with major physical abnormalities and
doctors face hard choices in regards to their treatment. Surgery can treat some of
the issues related to the syndrome, yet extreme and invasive procedures might not be
in the best interests of an infant whose lifespan could be measured in weeks or even
days. Treatment today consists of palliative care.

Approximately five to ten-percent of children with Edward's syndrome survive

beyond their first year of life, requiring treatments that are appropriate for the
various and chronic effects that are associated with the syndrome. Problems related
to nervous system abnormalities and muscle tone affect the development of the
infant's motor skills, potentially resulting in scoliosis and crossed eyes or, 'esotropia.'
Forms of surgical intervention might be limited due to the child's cardiac health.

Infants with Edward's syndrome can experience constipation caused by poor

abdominal muscle tone, something that can be a life-long problem. The results can be
discomfort, fretfulness, and feeding issues. Special milk formulas, anti-gas
medications, laxatives, stool softeners, as well as suppositories are potential
treatments a doctor may recommend. Enemas are something that should not be given
to a child with Edward's syndrome because they can deplete the child's electrolytes
and alter their body fluid composition.

Children with this syndrome exhibit severe developmental delays, although with early
intervention through therapy programs and special education they may reach some
developmental milestones. They also seem to have an increased risk for the
development of a, 'Wilms' tumor,' a form of kidney cancer that affects children for
the most part. It is recommended that children with Edward's syndrome have a
routine ultrasound of their abdomen. Children with this syndrome might require
treatment for:

Seizures
Club foot
Facial clefts
Spina bifida
Pneumonias
Ear infections
Eye infections
Hydrocephalus
Sinus infections
Apnea episodes
Urinary tract infections
Elevated blood pressure
Pulmonary hypertension
Congenital heart disease

These resources address the diagnosis or management of trisomy 18:

Genetic Testing Registry: Complete trisomy 18 syndrome

 MedlinePlus Encyclopedia: Trisomy 18

These resources from MedlinePlus offer information about the diagnosis and
management of various health conditions:

Diagnostic Tests
Drug Therapy
Surgery and Rehabilitation
Genetic Counseling
Palliative Care

https://www.disabled-world.com/disability/types/edwards-syndrome.php

https://ghr.nlm.nih.gov/condition/trisomy-18#diagnosis

Prognosis:
The majority of children who are born with Edward's syndrome do not live
past their first year of life. Their average lifespan for half of the children born with
this syndrome is less than two months; approximately ninety to ninety-five percent of
these children die prior to their first birthday. The five to ten-percent of children
who do survive their first year experience severe developmental disabilities. Children
who live past their first year require walking support and their ability to learn is
limited. Their verbal communication abilities are limited as well, although they are
able to respond to comforting and have the ability to learn to smile, recognize and
interact with caregivers and others. They can acquire skills such as self-feeding and
rolling over.

https://www.disabled-world.com/disability/types/edwards-syndrome.php